view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1B_chr9_137872782_138129619 | 138126339 | G | GCCCCCGG others(421): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0112 | 1 | 248 | 0.0040 | 428 | c.*43 others(439): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1721 | chr9 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 138126945 | G | GCCCCCGG others(421): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG03139.hp1 |
a0004a0006 | a0004c0025a0006c0042 | a0004c0025t0013a0006c0042t0032 | a0004c0025t0013g0217 a0006c0042t0032g0079 |
2 | 248 | 0.0081 | 428 | c.*49 others(439): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2327 | chr9 | TogoVar | |||||||
CACNA1I_chr22_39565753_39694735 | 39602014 | T | TTCCCTCC others(421): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01257.hp2 |
a0008 | a0008c0012 | a0008c0012t0003a0008c0012t0004 | a0008c0012t0003g0061 a0008c0012t0004g0062 |
2 | 236 | 0.0085 | 428 | c.482 others(445): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39602014 | T | TTCCCTCC others(421): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01358.hp1 HG01361.hp2 others(4): Show |
a0001a0004a0008 | a0001c0001a0004c0004a0008c0056 | a0001c0001t0002a0001c0001t0011a0001c0001t0039others(4): Show | a0001c0001t0002g0060 a0001c0001t0011g0063 a0001c0001t0039g0121 others(4): Show |
7 | 236 | 0.0297 | 428 | c.482 others(445): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50480935 | G | GAAGGGGG others(421): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 | 1 | 234 | 0.0043 | 428 | c.207 others(445): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72209189 | T | TTTCCTTC others(421): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0029 | 1 | 142 | 0.0070 | 428 | c.244 others(447): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255266 | A | ATATATAT others(421): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03225.hp2 HG03486.hp1 |
a0001a0002 | a0001c0007a0002c0004 | a0001c0007t0002a0002c0004t0002 | a0001c0007t0002g0028 a0002c0004t0002g0273 a0002c0004t0002g0274 |
3 | 330 | 0.0091 | 428 | c.907 others(443): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255266 | A | ATATATAT others(421): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02717.hp2 others(2): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0030 | a0001c0001t0002a0002c0002t0002a0007c0030t0002 | a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 others(2): Show |
5 | 330 | 0.0152 | 428 | c.907 others(443): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255266 | A | ATATATAT others(421): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0217 | 1 | 330 | 0.0030 | 428 | c.907 others(443): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255266 | A | ATATATAT others(421): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 330 | 0.0030 | 428 | c.907 others(443): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255266 | A | ATATATAT others(421): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 a0001c0001t0002g0319 |
2 | 330 | 0.0061 | 428 | c.907 others(443): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CCDC63_chr12_110841987_110912535 | 110905890 | A | ATTATATA others(421): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0015 | a0015c0021 | a0015c0021t0003 | a0015c0021t0003g0285 | 1 | 288 | 0.0035 | 428 | c.154 others(447): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 11/11 | chr12 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCACCA others(421): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0028 | 1 | 284 | 0.0035 | 428 | c.411 others(445): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCCTC others(421): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 256 | 0.0039 | 428 | c.-45 others(449): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881833 | T | TATAGATA others(421): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 440 | 0.0023 | 428 | c.*13 others(439): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 445 | chr13 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939896 | A | AAGAAAGA others(421): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0170 | 1 | 258 | 0.0039 | 428 | c.403 others(443): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CFAP251_chr12_121913592_122008919 | 121978400 | A | ATAAAAAT others(421): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0347 | 1 | 354 | 0.0028 | 428 | c.300 others(447): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | chr12 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19202514 | A | ATCACGGC others(421): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03540.hp2 |
a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0027 a0001c0003t0009g0028 |
2 | 346 | 0.0058 | 428 | c.360 others(447): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19202514 | A | ATCACGGC others(421): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 NA21309.hp2 |
a0001 | a0001c0003a0001c0026 | a0001c0003t0009a0001c0026t0009 | a0001c0003t0009g0029 a0001c0003t0009g0030 a0001c0026t0009g0031 |
3 | 346 | 0.0087 | 428 | c.360 others(447): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
CNBD1_chr8_86861415_87387859 | 87136885 | T | TTATATTT others(421): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 152 | 0.0066 | 428 | c.432 others(447): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(421): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0005 | a0001c0005t0022 | a0001c0005t0022g0186 | 1 | 270 | 0.0037 | 428 | c.162 others(449): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110355841 | G | GTGGGGGA others(421): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0004 | a0004c0009 | a0004c0009t0003 | a0004c0009t0003g0128 | 1 | 372 | 0.0027 | 428 | c.100 others(445): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | chr13 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227203424 | T | TGTGTGTA others(421): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0176 | 1 | 344 | 0.0029 | 428 | c.88- others(445): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134729648 | A | ATGCGGGC others(421): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0015 | a0002c0015t0003 | a0002c0015t0003g0118 | 1 | 272 | 0.0037 | 428 | c.925 others(443): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45990459 | A | AGGAGGGA others(421): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0016 | a0016c0045 | a0016c0045t0008 | a0016c0045t0008g0117 | 1 | 128 | 0.0078 | 428 | c.100 others(443): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978111 | A | ATATGTAA others(421): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 94 | 0.0106 | 428 | c.-2+ others(445): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1198155 | C | CGAAGGCA others(421): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0080 | 1 | 167 | 0.0060 | 428 | c.646 others(443): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
CXorf51A_chrX_146809106_146819744 | 146812263 | A | ATATGTGT others(421): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 264 | 0.0038 | 428 | c.*19 others(439): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1842 | chrX | TogoVar | |||||||
CXorf51A_chrX_146809106_146819744 | 146812296 | T | TGTACATA others(421): Show |
downstream_gene_variant | MODIFIER | HG01169.hp1 HG03491.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 264 | 0.0114 | 428 | c.*19 others(439): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1809 | chrX | TogoVar | |||||||
CXorf51B_chrX_146804771_146815411 | 146812263 | A | ATATGTGT others(421): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 272 | 0.0037 | 428 | c.*19 others(439): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1853 | chrX | TogoVar | |||||||
CXorf51B_chrX_146804771_146815411 | 146812296 | T | TGTACATA others(421): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG03471.hp1 HG03491.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0002c0002t0001g0001 |
4 | 272 | 0.0147 | 428 | c.*19 others(439): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1886 | chrX | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238179 | A | AGGGAGGA others(421): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0116 | 1 | 216 | 0.0046 | 428 | c.923 others(447): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397716 | G | GTGAGGGA others(421): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 367 | 0.0027 | 428 | c.-42 others(439): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4168 | chr16 | TogoVar | |||||||
DEPDC5_chr22_31749019_31913033 | 31903383 | C | CCCACCTT others(421): Show |
intron_variant | MODIFIER | HG03516.hp1 NA18522.hp2 |
a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0073 a0001c0011t0001g0074 |
2 | 204 | 0.0098 | 428 | c.443 others(447): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 41/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DEPDC5_chr22_31749019_31913033 | 31903383 | C | CCCACCTT others(421): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(119): Show |
a0001a0004a0006others(5): Show | a0001c0001a0001c0008a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(20): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(119): Show |
122 | 204 | 0.5980 | 428 | c.443 others(447): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 41/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DEPDC5_chr22_31749019_31913033 | 31903383 | C | CCCACCTT others(421): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 204 | 0.0049 | 428 | c.443 others(447): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 41/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DEPDC5_chr22_31749019_31913033 | 31903383 | C | CCCACCTT others(421): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01070.hp1 others(47): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0021others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0047 a0001c0001t0003g0166 a0001c0001t0004g0049 others(47): Show |
50 | 204 | 0.2451 | 428 | c.443 others(447): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 41/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DEPDC5_chr22_31749019_31913033 | 31903383 | C | CCCACCTT others(421): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03831.hp1 |
a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0178 a0001c0008t0003g0184 |
2 | 204 | 0.0098 | 428 | c.443 others(447): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 41/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14212344 | A | ATTTACTC others(421): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0081 | 1 | 148 | 0.0068 | 428 | c.212 others(449): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DOCK4_chr7_111721110_112211399 | 111926120 | A | AAAAGAAA others(421): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0042 | 1 | 106 | 0.0094 | 428 | c.106 others(447): Show |
DOCK4 | ENSG00000128512.24 | transcript | ENST00000428084.6 | protein_coding | 12/52 | chr7 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89618964 | C | CTCACTGC others(421): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 250 | 0.0040 | 428 | c.-10 others(447): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
DPYSL2_chr8_26509031_26663175 | 26556317 | C | CTATATAT others(421): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0147 | 1 | 316 | 0.0032 | 428 | c.355 others(447): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492360 | G | GGATGGAT others(421): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0184 | 1 | 374 | 0.0027 | 428 | c.772 others(443): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 59986789 | T | TATATAAA others(421): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0039 | 1 | 46 | 0.0217 | 428 | c.279 others(447): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
GOLT1A_chr1_204193163_204218988 | 204195224 | T | TACACACA others(421): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 HG03041.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0207 a0001c0001t0001g0232 |
3 | 414 | 0.0073 | 428 | c.*32 others(439): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 2938 | chr1 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53074404 | T | TTATATTT others(421): Show |
intron_variant | MODIFIER | HG03688.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0028 | a0001c0001t0003g0097 a0001c0001t0028g0154 |
2 | 208 | 0.0096 | 428 | c.-97 others(445): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106709971 | A | ACATGTAT others(421): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0055 | 1 | 256 | 0.0039 | 428 | c.183 others(447): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
HERC6_chr4_88373852_88448097 | 88380374 | T | TATATATA others(421): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 174 | 0.0058 | 428 | c.199 others(445): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161579 | G | GACCCCTG others(421): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 376 | 0.0027 | 428 | c.-43 others(437): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 371 | chr11 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 103869 | G | GGGGGTAG others(421): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0090 | 1 | 282 | 0.0036 | 428 | c.623 others(445): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |